Canonical Allele Identifier: CA024204
Gene: RYR1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 133083
dbSNP Id: rs193922884

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38580503C>T , CM000681.2:g.38580503C>T GRCh38
NC_000019.9:g.39071143C>T , CM000681.1:g.39071143C>T GRCh37
NC_000019.8:g.43762983C>T NCBI36
NG_008866.1:g.151804C>T , LRG_766:g.151804C>T

Transcript Alleles

HGVS Amino-acid change
NM_000540.2:c.14645C>T , LRG_766t1:c.14645C>T NP_000531.2:p.Thr4882Met
NM_001042723.1:c.14630C>T VV NP_001036188.1:p.Thr4877Met
XM_006723317.1:c.14627C>T XP_006723380.1:p.Thr4876Met
XM_006723319.1:c.14612C>T XP_006723382.1:p.Thr4871Met
XM_011527204.1:c.14642C>T XP_011525506.1:p.Thr4881Met
XM_011527205.1:c.14558C>T XP_011525507.1:p.Thr4853Met
XM_006723317.2:c.14627C>T
XM_006723319.2:c.14612C>T
XM_011527205.2:c.14558C>T
ENST00000355481.8:c.14630C>T ENSP00000347667.3:p.Thr4877Met
ENST00000359596.7:n.14645C>T ENSP00000352608.2:p.Thr4882Met
ENST00000360985.7:c.14627C>T ENSP00000354254.4:p.Thr4876Met